| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Common deletion and duplication syndromes v0.17 | ISCA-37394-Loss | Zornitza Stark Phenotypes for Region: ISCA-37394-Loss were changed from Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.13 | ISCA-37394-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37394-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.12 | ISCA-37394-Loss | Zornitza Stark Marked Region: ISCA-37394-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.12 | ISCA-37394-Loss | Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.12 | ISCA-37394-Loss | Zornitza Stark Classified Region: ISCA-37394-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.12 | ISCA-37394-Loss | Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.11 | ISCA-37394-Loss |
Zornitza Stark Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37394-Loss were set to 20691407 Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability Review for Region: ISCA-37394-Loss was set to GREEN Added comment: Well established recurrent CNV. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||